Associated Papers
Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.
Yaylacioglu Tuncay F et al.
Investigative Ophthalmology & Visual Science, 2025
39903177 (PubMed )
Supplement: iovs-66-2-9_s002.xlsx › Sheet1
Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.
Liu M et al.
Investigative Ophthalmology & Visual Science, 2024
38517429 (PubMed )
Supplement: iovs-65-3-31_s001.pdf
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.
Xiao H et al.
Journal of Ophthalmology, 2019
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.
Liu HY et al.
Journal of the Chinese Medical Association : Jcma, 2016
Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.
Xu Q et al.
Cell, 2004
Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.
Walker JL et al.
Human Mutation, 1997
Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.
Mintz-Hittner HA et al.
Ophthalmology, 1996
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.
Johnson K et al.
Clinical Genetics, 1996
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
Meindl A et al.
Human Molecular Genetics, 1995
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
Chen ZY et al.
Nature Genetics, 1993
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